Mutagenetix > Incidental Mutation

Incidental Mutation 'R7727:Cfap65'

595535

Institutional Source

Beutler Lab

Gene Symbol

Cfap65

Ensembl Gene

ENSMUSG00000047021

Gene Name

cilia and flagella associated protein 65

Synonyms

Ccdc108, B230363K08Rik

MMRRC Submission

045783-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.676) question?

Stock #

R7727 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74902071-74935599 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74926625 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 409 (T409A)

Ref Sequence

ENSEMBL: ENSMUSP00000092440 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094844]

AlphaFold

Q3V0B4

Predicted Effect

probably benign
Transcript: ENSMUST00000094844
AA Change: T409A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000092440
Gene: ENSMUSG00000047021
AA Change: T409A

Domain	Start	End	E-Value	Type
transmembrane domain	111	133	N/A	INTRINSIC
low complexity region	212	223	N/A	INTRINSIC
internal_repeat_1	745	890	9.31e-5	PROSPERO
internal_repeat_1	1167	1322	9.31e-5	PROSPERO
low complexity region	1350	1361	N/A	INTRINSIC
low complexity region	1574	1592	N/A	INTRINSIC
coiled coil region	1687	1724	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (69/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. The chicken ortholog of this gene is involved in the Rose-comb mutation, which is a large chromosome inversion, resulting in altered comb morphology and defects in sperm motility. [provided by RefSeq, Aug 2016]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	C	A	6: 41,033,193 (GRCm38)	R69L	probably benign	Het
Adamts5	A	T	16: 85,899,966 (GRCm38)	L101Q	probably damaging	Het
Arhgap18	A	T	10: 26,870,011 (GRCm38)	I293F	possibly damaging	Het
Atp8b1	T	A	18: 64,545,275 (GRCm38)	Q850L	probably damaging	Het
B4galnt3	A	T	6: 120,225,187 (GRCm38)	F118Y	probably benign	Het
Bcl6	A	G	16: 23,971,413 (GRCm38)		probably null	Het
Cc2d2b	T	A	19: 40,756,530 (GRCm38)	L31Q	probably benign	Het
Cd5l	G	T	3: 87,367,855 (GRCm38)	E234*	probably null	Het
Chst5	A	T	8: 111,890,925 (GRCm38)	I21N	probably benign	Het
Cldn20	T	C	17: 3,532,755 (GRCm38)	Y68H	probably benign	Het
Col4a4	T	C	1: 82,528,793 (GRCm38)	M269V	unknown	Het
Dgkh	A	G	14: 78,595,145 (GRCm38)		probably null	Het
Dpp6	A	G	5: 27,451,244 (GRCm38)	T166A	probably benign	Het
Drosha	A	G	15: 12,881,645 (GRCm38)	D754G	probably damaging	Het
Epb41l4a	C	A	18: 33,854,273 (GRCm38)	K350N	probably damaging	Het
Fsd1	T	G	17: 55,988,150 (GRCm38)	D46E	probably benign	Het
Gabra1	T	C	11: 42,133,591 (GRCm38)	D419G	probably damaging	Het
Golga4	T	A	9: 118,548,702 (GRCm38)	D458E	probably damaging	Het
Grm6	C	A	11: 50,851,542 (GRCm38)	A134E	probably benign	Het
Ikzf1	T	A	11: 11,748,339 (GRCm38)	S63R	probably damaging	Het
Ilvbl	G	A	10: 78,576,666 (GRCm38)	V74I	probably benign	Het
Kcng2	C	T	18: 80,296,090 (GRCm38)	V328M	probably benign	Het
Kpna7	T	C	5: 145,005,045 (GRCm38)	E145G	probably benign	Het
Krt81	A	G	15: 101,459,567 (GRCm38)	V428A	probably damaging	Het
Lalba	T	C	15: 98,482,668 (GRCm38)	M2V	probably benign	Het
Lrpprc	T	C	17: 84,776,947 (GRCm38)	S113G	probably benign	Het
Mboat1	A	C	13: 30,226,306 (GRCm38)	M249L	probably benign	Het
Meltf	T	C	16: 31,883,794 (GRCm38)	V113A	probably damaging	Het
Muc16	T	A	9: 18,660,242 (GRCm38)	H327L	unknown	Het
Myh1	A	G	11: 67,215,922 (GRCm38)	I1277V	probably benign	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 66,860,548 (GRCm38)		probably benign	Het
Naga	C	A	15: 82,330,147 (GRCm38)	V388L	probably benign	Het
Nfkb1	A	C	3: 135,585,401 (GRCm38)	M957R	possibly damaging	Het
Nol12	C	A	15: 78,940,593 (GRCm38)	S157*	probably null	Het
Olfr1000	A	G	2: 85,608,407 (GRCm38)	F168L	possibly damaging	Het
Olfr1038-ps	A	T	2: 86,122,496 (GRCm38)	D191V	possibly damaging	Het
Olfr272	A	G	4: 52,911,368 (GRCm38)	V142A	possibly damaging	Het
Pcdhga5	T	C	18: 37,695,045 (GRCm38)	V182A	probably benign	Het
Pik3r4	A	G	9: 105,669,882 (GRCm38)	E953G	probably damaging	Het
Piwil2	C	T	14: 70,394,057 (GRCm38)	R646Q	probably damaging	Het
Plxnc1	T	C	10: 94,944,109 (GRCm38)	H157R	probably damaging	Het
Prrg4	A	T	2: 104,839,378 (GRCm38)	F131L	probably benign	Het
Rab28	A	G	5: 41,707,970 (GRCm38)	S4P	probably damaging	Het
Ranbp2	C	A	10: 58,455,438 (GRCm38)	Q209K	probably benign	Het
Schip1	G	A	3: 68,064,984 (GRCm38)	D15N	probably benign	Het
Serpina3f	T	G	12: 104,218,218 (GRCm38)	M207R	probably benign	Het
Sgsm1	A	T	5: 113,274,327 (GRCm38)	M487K	possibly damaging	Het
Sh3tc2	A	T	18: 61,989,580 (GRCm38)	I471F	probably benign	Het
Slamf1	G	A	1: 171,774,899 (GRCm38)	V65I	possibly damaging	Het
Slit3	T	C	11: 35,684,044 (GRCm38)	C1062R	probably damaging	Het
Snapc4	T	G	2: 26,373,434 (GRCm38)	K344N	probably damaging	Het
Sorl1	A	G	9: 41,984,526 (GRCm38)	Y1778H	probably damaging	Het
Spon2	G	A	5: 33,215,675 (GRCm38)	R228C	probably damaging	Het
Sv2c	A	G	13: 95,976,695 (GRCm38)	I582T	possibly damaging	Het
Tamm41	C	T	6: 115,016,178 (GRCm38)	V205M	probably damaging	Het
Tmem2	C	T	19: 21,829,957 (GRCm38)	L917F	probably benign	Het
Trpm2	T	C	10: 77,925,789 (GRCm38)	D1009G	probably benign	Het
Trpm6	T	C	19: 18,854,249 (GRCm38)	S1493P	probably damaging	Het
Ttc34	G	A	4: 154,839,274 (GRCm38)	V147I	possibly damaging	Het
Uba2	C	T	7: 34,150,850 (GRCm38)	A393T	probably damaging	Het
Ubn2	T	A	6: 38,463,938 (GRCm38)	N416K	probably benign	Het
Uevld	T	C	7: 46,943,805 (GRCm38)	N233S	probably benign	Het
Upp2	G	A	2: 58,774,148 (GRCm38)	M142I	possibly damaging	Het
Vps52	T	A	17: 33,962,134 (GRCm38)	V450D	probably benign	Het
Wdr31	A	T	4: 62,460,636 (GRCm38)	F118Y	probably damaging	Het
Zcchc6	A	G	13: 59,799,682 (GRCm38)	F942L	probably benign	Het
Zfp110	T	A	7: 12,848,995 (GRCm38)	D523E	possibly damaging	Het
Zfp367	A	T	13: 64,145,643 (GRCm38)	V143D	probably damaging	Het
Zfp950	T	C	19: 61,119,941 (GRCm38)	I235V	probably benign	Het

Other mutations in Cfap65

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01107:Cfap65	APN	1	74,919,183 (GRCm38)	critical splice donor site	probably null
IGL01526:Cfap65	APN	1	74,911,078 (GRCm38)	missense	probably damaging	1.00
IGL01716:Cfap65	APN	1	74,927,194 (GRCm38)	missense	probably benign
IGL01780:Cfap65	APN	1	74,928,348 (GRCm38)	nonsense	probably null
IGL01993:Cfap65	APN	1	74,920,543 (GRCm38)	missense	probably damaging	1.00
IGL02164:Cfap65	APN	1	74,928,145 (GRCm38)	missense	possibly damaging	0.87
IGL02350:Cfap65	APN	1	74,928,348 (GRCm38)	nonsense	probably null
IGL02357:Cfap65	APN	1	74,928,348 (GRCm38)	nonsense	probably null
IGL02576:Cfap65	APN	1	74,903,458 (GRCm38)	missense	probably damaging	1.00
IGL02756:Cfap65	APN	1	74,905,080 (GRCm38)	missense	probably benign	0.00
IGL02792:Cfap65	APN	1	74,927,178 (GRCm38)	missense	probably damaging	1.00
IGL02874:Cfap65	APN	1	74,911,108 (GRCm38)	nonsense	probably null
IGL03101:Cfap65	APN	1	74,928,433 (GRCm38)	missense	possibly damaging	0.61
IGL03348:Cfap65	APN	1	74,927,619 (GRCm38)	missense	probably damaging	1.00
IGL03396:Cfap65	APN	1	74,904,642 (GRCm38)	missense	probably damaging	1.00
PIT4131001:Cfap65	UTSW	1	74,928,342 (GRCm38)	missense	probably benign	0.05
R0077:Cfap65	UTSW	1	74,931,918 (GRCm38)	missense	probably damaging	1.00
R0227:Cfap65	UTSW	1	74,931,958 (GRCm38)	nonsense	probably null
R0281:Cfap65	UTSW	1	74,927,071 (GRCm38)	missense	probably damaging	1.00
R0312:Cfap65	UTSW	1	74,904,067 (GRCm38)	missense	probably damaging	1.00
R0331:Cfap65	UTSW	1	74,929,302 (GRCm38)	missense	probably damaging	1.00
R0331:Cfap65	UTSW	1	74,929,301 (GRCm38)	missense	probably damaging	1.00
R0347:Cfap65	UTSW	1	74,926,444 (GRCm38)	missense	probably damaging	1.00
R0359:Cfap65	UTSW	1	74,920,601 (GRCm38)	missense	probably benign	0.00
R0361:Cfap65	UTSW	1	74,925,440 (GRCm38)	missense	probably damaging	1.00
R0465:Cfap65	UTSW	1	74,916,884 (GRCm38)	missense	possibly damaging	0.92
R0549:Cfap65	UTSW	1	74,918,444 (GRCm38)	missense	probably benign	0.01
R0646:Cfap65	UTSW	1	74,902,169 (GRCm38)	missense	probably benign	0.09
R0734:Cfap65	UTSW	1	74,918,887 (GRCm38)	missense	probably damaging	1.00
R0763:Cfap65	UTSW	1	74,904,682 (GRCm38)	missense	probably damaging	0.99
R0990:Cfap65	UTSW	1	74,921,519 (GRCm38)	missense	possibly damaging	0.60
R1079:Cfap65	UTSW	1	74,905,713 (GRCm38)	missense	probably damaging	0.99
R1079:Cfap65	UTSW	1	74,902,447 (GRCm38)	missense	probably damaging	0.98
R1083:Cfap65	UTSW	1	74,918,504 (GRCm38)	splice site	probably benign
R1159:Cfap65	UTSW	1	74,929,340 (GRCm38)	missense	probably damaging	1.00
R1282:Cfap65	UTSW	1	74,925,104 (GRCm38)	missense	probably benign	0.03
R1644:Cfap65	UTSW	1	74,917,175 (GRCm38)	missense	probably damaging	1.00
R1796:Cfap65	UTSW	1	74,918,948 (GRCm38)	missense	probably damaging	1.00
R1950:Cfap65	UTSW	1	74,907,660 (GRCm38)	missense	probably damaging	1.00
R2079:Cfap65	UTSW	1	74,917,199 (GRCm38)	missense	probably benign	0.30
R2132:Cfap65	UTSW	1	74,907,691 (GRCm38)	missense	probably damaging	1.00
R2136:Cfap65	UTSW	1	74,917,273 (GRCm38)	frame shift	probably null
R2219:Cfap65	UTSW	1	74,904,025 (GRCm38)	missense	probably damaging	1.00
R2220:Cfap65	UTSW	1	74,904,025 (GRCm38)	missense	probably damaging	1.00
R2291:Cfap65	UTSW	1	74,926,475 (GRCm38)	missense	probably damaging	1.00
R2417:Cfap65	UTSW	1	74,927,186 (GRCm38)	small insertion	probably benign
R3114:Cfap65	UTSW	1	74,927,132 (GRCm38)	missense	probably damaging	1.00
R4202:Cfap65	UTSW	1	74,920,542 (GRCm38)	missense	probably damaging	1.00
R4214:Cfap65	UTSW	1	74,927,681 (GRCm38)	missense	possibly damaging	0.93
R4254:Cfap65	UTSW	1	74,903,358 (GRCm38)	missense	probably benign	0.17
R4547:Cfap65	UTSW	1	74,907,612 (GRCm38)	missense	probably damaging	1.00
R4548:Cfap65	UTSW	1	74,907,612 (GRCm38)	missense	probably damaging	1.00
R4588:Cfap65	UTSW	1	74,904,056 (GRCm38)	missense	possibly damaging	0.92
R4657:Cfap65	UTSW	1	74,925,354 (GRCm38)	intron	probably benign
R4701:Cfap65	UTSW	1	74,918,908 (GRCm38)	missense	probably damaging	0.96
R4755:Cfap65	UTSW	1	74,928,361 (GRCm38)	missense	probably damaging	1.00
R4820:Cfap65	UTSW	1	74,927,632 (GRCm38)	missense	probably benign	0.06
R4831:Cfap65	UTSW	1	74,917,295 (GRCm38)	missense	possibly damaging	0.93
R4866:Cfap65	UTSW	1	74,925,557 (GRCm38)	missense	probably damaging	1.00
R4869:Cfap65	UTSW	1	74,919,261 (GRCm38)	missense	probably benign	0.00
R4881:Cfap65	UTSW	1	74,907,613 (GRCm38)	missense	probably damaging	1.00
R4884:Cfap65	UTSW	1	74,903,124 (GRCm38)	missense	possibly damaging	0.47
R4950:Cfap65	UTSW	1	74,906,336 (GRCm38)	nonsense	probably null
R5074:Cfap65	UTSW	1	74,922,978 (GRCm38)	missense	probably benign	0.04
R5083:Cfap65	UTSW	1	74,906,441 (GRCm38)	missense	probably damaging	1.00
R5164:Cfap65	UTSW	1	74,926,516 (GRCm38)	missense	probably damaging	1.00
R5268:Cfap65	UTSW	1	74,924,902 (GRCm38)	missense	probably benign	0.07
R5333:Cfap65	UTSW	1	74,903,175 (GRCm38)	missense	probably benign	0.03
R5417:Cfap65	UTSW	1	74,925,100 (GRCm38)	missense	probably damaging	1.00
R5582:Cfap65	UTSW	1	74,907,518 (GRCm38)	intron	probably benign
R5669:Cfap65	UTSW	1	74,924,968 (GRCm38)	missense	probably damaging	0.99
R6010:Cfap65	UTSW	1	74,923,031 (GRCm38)	missense	probably damaging	1.00
R6084:Cfap65	UTSW	1	74,920,405 (GRCm38)	missense	probably damaging	1.00
R6112:Cfap65	UTSW	1	74,903,139 (GRCm38)	missense	probably benign	0.14
R6425:Cfap65	UTSW	1	74,927,709 (GRCm38)	missense	probably benign	0.00
R6677:Cfap65	UTSW	1	74,904,685 (GRCm38)	missense	probably damaging	1.00
R6693:Cfap65	UTSW	1	74,917,286 (GRCm38)	missense	probably benign	0.00
R6838:Cfap65	UTSW	1	74,932,021 (GRCm38)	missense	probably benign	0.06
R6861:Cfap65	UTSW	1	74,925,115 (GRCm38)	missense	probably damaging	1.00
R6958:Cfap65	UTSW	1	74,931,899 (GRCm38)	missense	possibly damaging	0.58
R7134:Cfap65	UTSW	1	74,926,633 (GRCm38)	missense	probably benign	0.01
R7320:Cfap65	UTSW	1	74,926,604 (GRCm38)	missense	probably damaging	0.99
R7340:Cfap65	UTSW	1	74,921,583 (GRCm38)	missense	probably benign	0.07
R7426:Cfap65	UTSW	1	74,920,426 (GRCm38)	missense	possibly damaging	0.92
R7529:Cfap65	UTSW	1	74,926,610 (GRCm38)	missense	probably damaging	1.00
R7634:Cfap65	UTSW	1	74,902,434 (GRCm38)	missense	probably damaging	1.00
R7654:Cfap65	UTSW	1	74,933,144 (GRCm38)	missense	probably benign	0.44
R7704:Cfap65	UTSW	1	74,928,368 (GRCm38)	missense	probably benign	0.19
R7895:Cfap65	UTSW	1	74,933,162 (GRCm38)	missense	probably benign	0.05
R8215:Cfap65	UTSW	1	74,910,743 (GRCm38)	missense	probably damaging	1.00
R8344:Cfap65	UTSW	1	74,928,044 (GRCm38)	missense	probably benign	0.01
R8345:Cfap65	UTSW	1	74,928,044 (GRCm38)	missense	probably benign	0.01
R8413:Cfap65	UTSW	1	74,917,169 (GRCm38)	nonsense	probably null
R8431:Cfap65	UTSW	1	74,928,044 (GRCm38)	missense	probably benign	0.01
R8432:Cfap65	UTSW	1	74,928,044 (GRCm38)	missense	probably benign	0.01
R8528:Cfap65	UTSW	1	74,905,937 (GRCm38)	missense	possibly damaging	0.88
R8809:Cfap65	UTSW	1	74,903,223 (GRCm38)	missense	probably benign	0.43
R8996:Cfap65	UTSW	1	74,902,188 (GRCm38)	missense	probably benign	0.11
R9020:Cfap65	UTSW	1	74,920,393 (GRCm38)	missense	probably damaging	1.00
R9043:Cfap65	UTSW	1	74,904,688 (GRCm38)	missense	possibly damaging	0.88
R9127:Cfap65	UTSW	1	74,919,351 (GRCm38)	splice site	probably benign
R9187:Cfap65	UTSW	1	74,917,358 (GRCm38)	missense	probably benign	0.00
R9210:Cfap65	UTSW	1	74,920,408 (GRCm38)	missense	probably benign
R9212:Cfap65	UTSW	1	74,920,408 (GRCm38)	missense	probably benign
R9273:Cfap65	UTSW	1	74,921,610 (GRCm38)	missense	probably benign	0.00
R9454:Cfap65	UTSW	1	74,905,051 (GRCm38)	missense	probably damaging	1.00
R9514:Cfap65	UTSW	1	74,906,309 (GRCm38)	critical splice donor site	probably null
R9595:Cfap65	UTSW	1	74,907,378 (GRCm38)	missense	probably damaging	1.00
R9721:Cfap65	UTSW	1	74,919,342 (GRCm38)	missense	probably benign	0.16
R9742:Cfap65	UTSW	1	74,904,681 (GRCm38)	missense	probably benign	0.08
RF009:Cfap65	UTSW	1	74,905,647 (GRCm38)	missense	probably damaging	1.00
Z1176:Cfap65	UTSW	1	74,910,747 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGATGGATGAGACAAGCCACC -3'
(R):5'- GGAACTGAGTTTTGCAGGGC -3'

Sequencing Primer
(F):5'- CCCTCCGGAAACTGATGATAGG -3'
(R):5'- AGCACTCCATCCAAGCGGTG -3'

Posted On

2019-11-12